It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …

Long-term hearing threshold-on-age follow-up data, including non-linear regression
analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's …

BACKGROUND AND AIM: Inner ear anomalies have been reported in approximately 30% of
children with early onset deafness. Identification of causative genetic factors in a large …

Pendred syndrome is an autosomal recessive inherited disorder. Obligatory features are
profound deafness in childhood and defective organic binding of iodine in the thyroid gland …

Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-
base status. Background Pendrin belongs to a superfamily of Cl-/anion exchangers and is …

The expression and function of the anion exchanger pendrin (SLC26A4) was thought to be
limited mainly to the inner ear, kidney and thyroid. Recent data indicates that pendrin is also …

Objective: To evaluate vestibular and long-term audiometric findings in patients with
Pendred syndrome. Study design: Retrospective analysis of long-term clinical data. Setting …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

Mutations in the anion exchanger pendrin are responsible for Pendred syndrome, an
autosomal recessive disease characterized by deafness and goitre. Pendrin is highly …

Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the
cause is a heterogeneous genetic abnormality and is caused by the changes that occur in …